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1 . Academic Journal
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons
저자
by
Muhammad Faheem
;
Eric Deneault
;
Roumiana Alexandrova
;
Deivid C. Rodrigues
;
Giovanna Pellecchia
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)
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7 . Academic Journal
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
저자
by
Ada J. S. Chan
;
Worrawat Engchuan
;
Miriam S. Reuter
;
Zhuozhi Wang
;
Bhooma Thiruvahindrapuram
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
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7 . Academic Journal
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder
저자
by
André Luíz Teles e Silva
;
Talita Glaser
;
Karina Griesi-Oliveira
;
Juliana Corrêa-Velloso
;
Jaqueline Yu Ting Wang
, et al.
소스
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
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7 . Academic Journal
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay
저자
by
Yi Liu
;
Yuqiang Lv
;
Mehdi Zarrei
;
Rui Dong
;
Xiaomeng Yang
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
저자
by
Livia O. Loureiro
;
Jennifer L. Howe
;
Miriam S. Reuter
;
Alana Iaboni
;
Kristina Calli
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
저자
by
Daniele Merico
;
Yehonatan Pasternak
;
Mehdi Zarrei
;
Edward J. Higginbotham
;
Bhooma Thiruvahindrapuram
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
저자
by
Nasna Nassir
;
Asma Bankapur
;
Bisan Samara
;
Abdulrahman Ali
;
Awab Ahmed
, et al.
소스
Human Genomics, Vol 15, Iss 1, Pp 1-16 (2021)
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7 . Academic Journal
Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer
저자
by
Anna Bobyn
;
Mehdi Zarrei
;
Yuankun Zhu
;
Mary Hoffman
;
Darren Brenner
, et al.
소스
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)
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7 . Academic Journal
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences
저자
by
Roozbeh Manshaei
;
Daniele Merico
;
Miriam S. Reuter
;
Worrawat Engchuan
;
Bahareh A. Mojarad
, et al.
소스
Frontiers in Genetics, Vol 11 (2020)
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7 . Academic Journal
A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees
저자
by
Marc Woodbury-Smith
;
Andrew D. Paterson
;
Irene O’Connor
;
Mehdi Zarrei
;
Ryan K. C. Yuen
, et al.
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Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-9 (2018)
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